Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Nieh, SE"'
Autor:
Barkovich, Anthony, Sherr, Elliott, Sajan, SA, Fernandez, L, Nieh, SE, Rider, E, Bukshpun, P, Wakahiro, M, Christian, SL, Rivière, JB, Sullivan, CT, Sudi, J
Publikováno v:
Barkovich, Anthony; Sherr, Elliott; Sajan, SA; Fernandez, L; Nieh, SE; Rider, E; et al.(2013). Both Rare and De Novo Copy Number Variants Are Prevalent in Agenesis of the Corpus Callosum but Not in Cerebellar Hypoplasia or Polymicrogyria. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/7xk0p1w4
Agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and polymicrogyria (PMG) are severe congenital brain malformations with largely undiscovered causes. We conducted a large-scale chromosomal copy number variation (CNV) discovery eff
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::11aeb058be4eb3816c79ccb37c0b2ea1
http://www.escholarship.org/uc/item/7xk0p1w4
http://www.escholarship.org/uc/item/7xk0p1w4
Akademický článek
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Autor:
Nieh SE; Departments of Neurology and Pediatrics, University of California, San Francisco, CA, USA, EsmaeeliS@neuropeds.ucsf.edu., Sherr EH
Publikováno v:
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics [Neurotherapeutics] 2014 Oct; Vol. 11 (4), pp. 796-806.
Autor:
Sajan SA; Department of Pediatrics, Section of Neurology, Baylor College of Medicine, Houston, Texas, United States of America., Fernandez L, Nieh SE, Rider E, Bukshpun P, Wakahiro M, Christian SL, Rivière JB, Sullivan CT, Sudi J, Herriges MJ, Paciorkowski AR, Barkovich AJ, Glessner JT, Millen KJ, Hakonarson H, Dobyns WB, Sherr EH
Publikováno v:
PLoS genetics [PLoS Genet] 2013; Vol. 9 (10), pp. e1003823. Date of Electronic Publication: 2013 Oct 03.
Autor:
Pouya AR; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Abedini SS, Mansoorian N, Behjati F, Nikzat N, Mohseni M, Nieh SE, Abbasi Moheb L, Darvish H, Monajemi GB, Banihashemi S, Kahrizi K, Ropers HH, Najmabadi H
Publikováno v:
European journal of medical genetics [Eur J Med Genet] 2009 Jul-Aug; Vol. 52 (4), pp. 170-3. Date of Electronic Publication: 2009 Apr 08.
Autor:
Motazacker MM; Max Planck Institute for Molecular Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany., Rost BR, Hucho T, Garshasbi M, Kahrizi K, Ullmann R, Abedini SS, Nieh SE, Amini SH, Goswami C, Tzschach A, Jensen LR, Schmitz D, Ropers HH, Najmabadi H, Kuss AW
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2007 Oct; Vol. 81 (4), pp. 792-8. Date of Electronic Publication: 2007 Aug 31.
Autor:
Najmabadi H; Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Motazacker MM, Garshasbi M, Kahrizi K, Tzschach A, Chen W, Behjati F, Hadavi V, Nieh SE, Abedini SS, Vazifehmand R, Firouzabadi SG, Jamali P, Falah M, Seifati SM, Grüters A, Lenzner S, Jensen LR, Rüschendorf F, Kuss AW, Ropers HH
Publikováno v:
Human genetics [Hum Genet] 2007 Mar; Vol. 121 (1), pp. 43-8. Date of Electronic Publication: 2006 Nov 21.